VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog
The VIPAS39 gene encodes a protein involved in the sorting of lysosomal proteins. Mutations in this gene cause autosomal recessive ARCS2, a syndrome characterized by arthrogryposis, renal dysfunction, and cholestasis.
Genetests:
Related Diseases:
References:
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Cullinane AR et al. (2010) Mutations in VIPAR cause an arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarization.
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2. |
Heilig R et al. (2003) The DNA sequence and analysis of human chromosome 14.
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3. |
Zhu GD et al. (2009) SPE-39 family proteins interact with the HOPS complex and function in lysosomal delivery.
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4. |
NCBI article
NCBI 63894
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5. |
OMIM.ORG article
Omim 613401
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6. |
Orphanet article
Orphanet ID 227089
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7. |
Wikipedia article
Wikipedia EN (VIPAS39)
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Update: Aug. 14, 2020